G498S (p.Gly498Ser) variant of GRIN2A (Q12879)
G498S (p.Gly498Ser) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G498S (p.Gly498Ser) variant details
- p.Gly498Ser
- rs757713617
- ClinGen CA394800525
- cosmic curated COSV58054
- ClinVar RCV001209558
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.69
- MetaLR 0.25
- MetaSVM -0.36
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: GRIN2A-related disorders: genotype and functional consequence predict phenotype. (PMID 30544257)
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)